Disease Progression in Multiple System Atrophy: The ASPIRE Multi-Modal Biomarker Study.

Objective: The objective of this study was to characterize changes in candidate biomarkers in early multiple system atrophy (MSA) and identify baseline predictors of faster progression.

Methods: This 1-year, multicenter, prospective study assessed clinical, neuroimaging (3T-magnetic resonance imaging [MRI], dopamine transporter single-photon emission computed tomography [DaT-SPECT]), and neurofilament light chain (NfL) changes in patients with early MSA (< 5 years from symptom onset) and healthy controls (HCs). Clinical and biomarker changes from baseline to 6 months (M6) and 12 months (M12) were analyzed.

Impairment in the behavioral control of body sway, gaze shift, and mental workload in Parkinson's disease.

We tested Parkinson's disease (PD)-related impairments in the relationship between gaze shifts, body sway and mental workload while performing visual tasks in the standing position. Nineteen on-drug PD patients (Hoehn and Yahr I-II; MDS-UPDRS score part III: 23.37 ± 2.

Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.

Bi-allelic pathogenic GBA1 variants cause Gaucher disease (GD), whereas certain heterozygous missense variants increase the risk of Parkinson's disease (PD), although the underlying mechanisms are unclear. Here, we classified GBA1 missense variants using predictive and structural scores, and analysed their associations with enzyme activity, Saposin C (SapC) interaction and PD progression in 639 patients with heterozygous GBA1 variants from five cohorts. Principal component analysis (PCA) identified two components: PC1, associated with reduced β-glucocerebosidase activity, the GD clinical severity classification, younger age at PD diagnosis, and faster cognitive and motor decline; and PC2, associated with surface-exposed, flexible regions involved in SapC interactions, younger age at PD diagnosis, and slightly with motor decline.

Subcutaneous Apomorphine Infusion Initiation Is Associated with Impulse Control Disorder Attenuation in Advanced Parkinson's Disease Patients: Insights from the French NS-Park Cohort.

Background: Impulse control disorders (ICD) are common non-motor complications in Parkinson's disease (PD), particularly in patients receiving oral dopamine agonists (DA). Continuous subcutaneous apomorphine infusion (CSAI) is a device-aided therapy for advanced PD, but its effects on ICD remain underexplored in real-world settings.

Objectives: To assess the impact of CSAI initiation on ICD prevalence and severity in a large real-world PD cohort and to compare ICD evolution in CSAI-treated patients versus orally-treated controls.

Compensation of Postural Control in Demyelinating Neuropathies: Better Visual Integration in Charcot-Marie-Tooth Type 1A than in Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Introduction: Demyelinating neuropathies, such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and Charcot-Marie-Tooth type 1A (CMT1A), significantly impair postural control. While both conditions affect sensory integration, differences in compensatory mechanisms remain poorly understood. This study aimed to explore how visual, proprioceptive, and cognitive perturbations influence postural stability in CIDP and CMT1A patients.

Motor and Non-motor Complications Following Different Early Therapies in Parkinson's Disease: Longitudinal Analysis of Real-Life Clinical and Therapeutic Data from the French NS-PARK Cohort.

Background: Levodopa, dopamine agonists (DA) and monoamine oxidase inhibitors (MAOI) are all approved first-line therapies for Parkinson's disease (PD), as monotherapy or in combination. Data on their use in the early management of patients with PD in real-life are lacking. Our objective was to assess the impact of early therapeutic strategies on the development of motor and neuropsychiatric complications using a nationwide PD cohort.

Theory of Mind in Myotonic Dystrophy Type 1 Is Associated With Cortical Gyrification and White Matter Hyperintensities.

Background: Theory of Mind (ToM) Refers to the ability to infer other people's thoughts (Cognitive ToM) and emotions (Affective ToM). Myotonic Dystrophy Type 1 (DM1) Patients Showed an impairment of ToM capacities, but the underlying neural mechanisms remain poorly understood.

Methods: We included 58 adult non-congenital DM1 patients from the DMVASCOG cohort, who underwent a ToM evaluation using the Movie for the Assessment of Social Cognition and a brain MRI.

Parkinson's Disease, Speech and Neurosurgery.

Background: Speech impairment is a recognized but unpredictable adverse effect of sub-thalamic nucleus deep brain stimulation (STN-DBS) for Parkinson's disease (PD).

Objectives: To evaluate the prevalence of speech impairment 1 year after STN-DBS in PD patients and to determine the predictive factors for speech outcome following STN-DBS.

Methods: Data for 417 patients from the French national PREDISTIM study were collected preoperatively.

Two case reports of RAB39B deletion displaying highly variable parkinsonism.

Waisman's syndrome is a rare genetic disease related to mutation in the RAB39B gene, on the X-chromosome, and characterized by intellectual disability and parkinsonism. First case is a male with hemizygous deletion, associated with severe symptoms and acanthocytosis, second case is a female with heterozygous deletion and skewed X-inactivation.

Conservative iron chelation for VAC14: Two-year clinical-radiological follow-up.

There is a distinct lack of consensus on the most effective treatments for neurodegeneration with brain iron accumulation. This is due to the rarity of the disease, its phenotypic variability, and the multiplicity of pathophysiological mechanisms. Our team has already proposed the use of conservative iron chelation in cases of neuroferritinopathy, with interesting results.

Metabolic connectivity of freezing in Parkinson's disease.

BackgroundFreezing of gait (FoG) is among the most disabling gait disorders of Parkinson's disease. The full understanding of its mechanisms requires a network study approach. So far, FoG was mainly studied using magnetic resonance imaging, and especially using the resting state functional sequence, which does not completely reflect the brain actual modifications.

Pediatric-onset disease: New insights into an understudied population.

Background: In pediatric age, the mutation is reported as one of the most common genetic causes of Parkinson's disease. However, detailed clinical data on patients with pediatric onset are scarce.

Objective: To describe clinical characteristics, disease progression, and management of patients with pediatric onset.

Clinical prognostic factors in progressive supranuclear palsy: Implications for clinical trials.

Background: Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease with diverse clinical phenotypes, prompting the development of new diagnostic criteria known as the MDS-PSP classification. However, little is known about the prognostic value of this classification in order to better stratify patients for the clinical trials.

Objective: To assess the impact of the different clinical phenotypes according to the MDS-PSP classification on prognosis using the clinical milestones of death, severe dysphagia, institutionalization, and need for walking aid.

Still Functional but Limited Postural Adaptation for Individuals With Parkinson's Disease in Goal-Directed Visual Tasks.

Patients with Parkinson's disease (PD) notably exhibit impairments in posture and visual attention. The objective of the present study was to determine whether PD patients were able to exhibit adaptive postural control in a goal-directed visual task. We hypothesized that the patients would reduce their centre of pressure (COP) movement and/or postural sway to a lesser extent than age-matched controls in the goal-directed visual (search) task, compared with the control free-viewing task (i.

Doses of Botulinum Toxin in Cervical Dystonia: Does Ultrasound Guidance Change Injection Practices?

Background: Cervical dystonia is widely understood to benefit from botulinum toxin injections. The injection practices may be influenced by specific factors, including the method of injection. Three main guidance methods can be used: palpation of anatomical landmarks, ultrasound, and electromyography.

Psychiatric phenotype in neurodevelopmental myoclonus-dystonia is underpinned by abnormality of cerebellar modulation on the cerebral cortex.

Psychiatric symptoms are common in neurodevelopmental movement disorders, including some types of dystonia. However, research has mainly focused on motor manifestations and underlying circuits. Myoclonus-dystonia is a rare and homogeneous neurodevelopmental condition serving as an illustrative paradigm of childhood-onset dystonias, associated with psychiatric symptoms.

The plurality of mechanisms of gait initiation disorders in Parkinson's disease: Relationships with motor, cognitive and limbic functions.

Background: Deficient postural adaptation and freezing lead to gait initiation abnormalities in Parkinson's disease. Gait initiation is characterized by longer motor preparation, which is a marker of increased risk of falling, and by abnormal postural adjustments. Better understanding the nature of these motor preparation disturbances will enable us to adapt rehabilitation and reduce falls.

Development of a Screening Tool for Assessing Sexual Difficulties Among Patients with Parkinson's Disease: The PD-SDS.

Background: People with Parkinson's disease (PwPD) exhibit various sexual difficulties (SDs) that may be due to motor and/or nonmotor symptoms or the use of antiparkinsonian medication. SDs are often underreported by PwPD and underexplored by physicians.

Objective: This study aimed to explore the SDs experienced by PwPD and create a scale for assessing them.

Dealing with the diagnosis of Parkinson's disease and its implications for couple functioning in the early stage: An interpretative phenomenological analysis.

Background: For couples facing Parkinson's disease, marital relationships are significantly impacted, even at the early stages of the disease. However, very few studies have explicitly explored the functioning of the couple and how both partners deal with Parkinson's disease. The aim of this study was to explore the experiences and strategies of couples facing Parkinson's disease in the early stage using dyadic interpretative phenomenological analysis.